Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts von Lücke, Thomas, Höppner, Wiebke, Schmidt, Esther, Illsinger, Sabine, Das, Anibh M

Volltext

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1) von Das, Anibh Martin

Volltext

Next-generation sequencing of endoscopic biopsies identifies ARID1A as a tumor-suppressor gene in Barrett’s esophagus von Streppel, M M, Lata, S, DelaBastide, M, Montgomery, E A, Wang, J S, Canto, M I, Macgregor-Das, A M, Pai, S, Morsink, F H M, Offerhaus, G J, Antoniou, E, Maitra, A, McCombie, W R

Volltext

Regulation of the mitochondrial ATP-synthase in health and disease von Das, Anibh M

Volltext

Anti-IL-13 monoclonal antibody inhibits airway hyperresponsiveness, inflammation and airway remodeling von Yang, Gaoyun, Volk, Amy, Petley, Ted, Emmell, Eva, Giles-Komar, Jill, Shang, Xiaozhou, Li, Jian, Das, Anuk M., Shealy, Dave, Griswold, Don E., Li, Li

Volltext

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network von Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Matthijs, Gert, Nassogne, Marie-Cecile, Debray, Francois-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Das, Anihb Martin, Hennermann, Julia, Koelker, Stefan, Weinhold, Natalie, Mohnike, Klaus, Gruenert, Sarah, Lund, Allan Meldgaard, Morales-Conejo, Montserrat, del Toro-Riera, Mireia, Aldamiz-Echevarria, Luis, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, Labrune, Philippe, de Lonlay, Pascale, Belmatoug, Nadia, Germain, Dominique P., Cano, Aline, Dobbelaere, Dries, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Baric, Ivo, Zigman, Tamara, Pflieger, Gyoergy, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumiene, Birute, Huidekoper, Hidde, van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kiec-Wilk, Beata, Mendes Gaspar, Ana-Maria Simoes, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Rodriges Silva, Esmeralda-Maria Ferreira, de Abreu Freire Diogo Matos, Luisa-Maria, Martins, Esmeralda, Lajic, Svetlana, Darin, Niklas, Groselj, Urh, Tansek, Mojca-Zerjav

Volltext

Application of a Second-Tier Newborn Screening Assay for C5 Isoforms von Cloppenborg, T, Janzen, N, Wagner, HJ, Steuerwald, U, Peter, M, Das, AM

Volltext

Role of Resident Peritoneal Macrophages and Mast Cells in Chemokine Production and Neutrophil Migration in Acute Inflammation: Evidence for an Inhibitory Loop Involving Endogenous... von Ajuebor, Maureen N, Das, Anuk M, Virag, Laszlo, Flower, Roderick J, Szabo, Csaba, Perretti, Mauro

Volltext

Research activity and capability in the European reference network MetabERN von Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio

Volltext

Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene von Das, Anibh M, Illsinger, Sabine, Lucke, Thomas, Hartmann, Hans, Ruiter, Jos P.N, Steuerwald, Ulrike, Waterham, Hans R, Duran, Marinus, Wanders, Ronald J.A

Volltext

Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone von Sander, Johannes, Janzen, Nils, Peter, Michael, Sander, Stefanie, Steuerwald, Ulrike, Holtkamp, Ute, Schwahn, Bernd, Mayatepek, Ertan, Trefz, Friedrich K, Das, Anibh M

Volltext

Neonatal screening for defects of the mitochondrial trifunctional protein von Sander, Johannes, Sander, Stefanie, Steuerwald, Ulrike, Janzen, Nils, Peter, Michael, Wanders, Ronald J.A., Marquardt, Iris, Korenke, G. Christoph, Das, Anibh M.

Volltext

Congenital and Putatively Acquired Forms of Sucrase‐isomaltase Deficiency in Infancy: Effects of Sacrosidase Therapy von Lücke, Thomas, Keiser, Markus, Illsinger, Sabine, Lentze, Michael J, Naim, Hassan Y, Das, Anibh M

Volltext

Discovery of CC Chemokine Receptor-3 (CCR3) Antagonists with Picomolar Potency von De Lucca, George V, Kim, Ui Tae, Vargo, Brian J, Duncia, John V, Santella, Joseph B, Gardner, Daniel S, Zheng, Changsheng, Liauw, Ann, Wang, Zhang, Emmett, George, Wacker, Dean A, Welch, Patricia K, Covington, Maryanne, Stowell, Nicole C, Wadman, Eric A, Das, Anuk M, Davies, Paul, Yeleswaram, Swamy, Graden, Danielle M, Solomon, Kimberly A, Newton, Robert C, Trainor, George L, Decicco, Carl P, Ko, Soo. S

Volltext

Rapid blood spot quantification of steroids relevant for Congenital Adrenal Hyperplasia (CAH) using UPLC tandem mass spectrometry von Janzen, N., Sander, S., Terhardt, M., Peter, M., Das, A.M., Sander, J.

Volltext

Control of mitochondrial ATP synthesis in the heart von HARRIS, D. A, DAS, A. M

Volltext

Synthesis of some new steroidal [16α,17α-d]-isoxazolines von Chowdhury, Pritish, Das, Archana Moni, Goswami, Papori

Volltext

Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate von Das, A.M, Lücke, T, Ullrich, K

Volltext

Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease) von Jolly, R.D., Brown, S., Das, A.M., Walkley, S.U.

Volltext

Status epilepticus and hyperprolinaemia following recurrent gelatine administrations in a patient on peritoneal dialysis von Illsinger, Sabine, Lücke, Thomas, Offner, Gisela, Hartmann, Hans, Das, Anibh Martin

Volltext